rs371582179
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs371582179(C;C) |
Make rs371582179(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 33014057 |
Gene | GLB1 |
is a | snp |
is | mentioned by |
dbSNP | rs371582179 |
dbSNP (classic) | rs371582179 |
ClinGen | rs371582179 |
ebi | rs371582179 |
HLI | rs371582179 |
Exac | rs371582179 |
Gnomad | rs371582179 |
Varsome | rs371582179 |
LitVar | rs371582179 |
Map | rs371582179 |
PheGenI | rs371582179 |
Biobank | rs371582179 |
1000 genomes | rs371582179 |
hgdp | rs371582179 |
ensembl | rs371582179 |
geneview | rs371582179 |
scholar | rs371582179 |
rs371582179 | |
pharmgkb | rs371582179 |
gwascentral | rs371582179 |
openSNP | rs371582179 |
23andMe | rs371582179 |
SNPshot | rs371582179 |
SNPdbe | rs371582179 |
MSV3d | rs371582179 |
GWAS Ctlg | rs371582179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371582179(C;C) |
Alt | rs371582179(C;C) |
Reference | Rs371582179(T;T) |
Significance | Pathogenic |
Disease | GM1 gangliosidosis type 2 |
Variation | info |
Gene | TMPPE GLB1 |
CLNDBN | GM1 gangliosidosis type 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.33055549T>C |
CLNSRC | |
CLNACC | RCV000239412.1, |